Genetic signatures of high-altitude adaptation in Tibetans

Yang, Jian, Jin, Zi-Bing, Chen, Jie, Huang, Xiu-Feng, Li, Xiao-Man, Liang, Yuan-Bo, Mao, Jian-Yang, Chen, Xin, Zheng, Zhili, Bakshi, Andrew, Zheng, Dong-Dong, Zheng, Mei-Qin, Wray, Naomi R., Visscher, Peter M., Lu, Fan and Qu, Jia (2017) Genetic signatures of high-altitude adaptation in Tibetans. Proceedings of the National Academy of Sciences, 114 16: 4189-4194. doi:10.1073/pnas.1617042114

Author Yang, Jian
Jin, Zi-Bing
Chen, Jie
Huang, Xiu-Feng
Li, Xiao-Man
Liang, Yuan-Bo
Mao, Jian-Yang
Chen, Xin
Zheng, Zhili
Bakshi, Andrew
Zheng, Dong-Dong
Zheng, Mei-Qin
Wray, Naomi R.
Visscher, Peter M.
Lu, Fan
Qu, Jia
Title Genetic signatures of high-altitude adaptation in Tibetans
Journal name Proceedings of the National Academy of Sciences   Check publisher's open access policy
ISSN 1091-6490
Publication date 2017-04-18
Year available 2017
Sub-type Article (original research)
DOI 10.1073/pnas.1617042114
Open Access Status Not yet assessed
Volume 114
Issue 16
Start page 4189
End page 4194
Total pages 6
Place of publication Washington, DC, United States
Publisher National Academy of Sciences
Language eng
Subject 1000 General
Abstract Indigenous Tibetan people have lived on the Tibetan Plateau for millennia. There is a long-standing question about the genetic basis of high-altitude adaptation in Tibetans. We conduct a genome-wide study of 7.3 million genotyped and imputed SNPs of 3,008 Tibetans and 7,287 non-Tibetan individuals of Eastern Asian ancestry. Using this large dataset, we detect signals of high-altitude adaptation at nine genomic loci, of which seven are unique. The alleles under natural selection at two of these loci [methylenetetrahydrofolate reductase (MTHFR) and EPAS1] are strongly associated with blood-related phenotypes, such as hemoglobin, homocysteine, and folate in Tibetans. The folate-increasing allele of rs1801133 at the MTHFR locus has an increased frequency in Tibetans more than expected under a drift model, which is probably a consequence of adaptation to high UV radiation. These findings provide important insights into understanding the genomic consequences of high-altitude adaptation in Tibetans.
Keyword Genome-wide association study
High-altitude adaptation
Mixed linear model
Polygenic selection
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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